TGF beta receptor 1

TGF beta receptor 1 (also known as TGFBR1) is a type of protein that in humans is encoded by the TGFBR1 gene. It is a member of the TGF beta receptor family, a group of proteins that play crucial roles in cellular functions such as growth, proliferation, differentiation, and apoptosis.

Function[edit | edit source]

TGFBR1 is a serine/threonine protein kinase that forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation.

Clinical significance[edit | edit source]

Mutations in TGFBR1 can result in various medical conditions. For instance, they can cause Loeys-Dietz syndrome, a genetic disorder characterized by aortic aneurysms. Mutations can also lead to multiple self-healing squamous epithelioma (MSSE), a condition where individuals develop multiple skin tumors, but which heal by themselves over time.

Interactions[edit | edit source]

TGFBR1 has been shown to interact with various proteins, including SMAD2, SMAD3, and SMAD7. These interactions are crucial for the transduction of the TGF-beta signal from the cell surface to the cytoplasm.